【摘要】 目的 分析两个伴精神障碍的遗传性共济失调家系的临床特点以及5-HT2A,5-HT6,APOE和SCA基因多态性。方法 对在院的SCA先证者的家系调研筛选后,以其一级和二级亲属为对象作精神检查、量表测试,同时应用PCR—RFLP和Amp-FLP技术检测APOE、5-HT2A、5-HT6等基因的多态性和SCA位点的(CAG)n的重复序列的扩增。结果 本组的SCA属非SCA1型,呈显性遗传。SCA病人有较严重的精神障碍伴发,其中以焦虑、自杀倾向和早发痴呆为多见。但未见SCA1位点的(CAG)n重复序列的扩增,以及SCA患者中APOE的ε2/ε3和5-HT2A和A2/A2型增高。结论 本组SCA有较高精神障碍伴发,以焦虑、自杀倾向和早发痴呆为多见。更多还原

【Abstract】 Objectives: To analyze clinical charcteristics and genetic polymorphisms of 5-HT2A, 5-HT6, APOE and SCA in the family members of 2 index patients with hereditary spinocerebellar ataxia accompanied by mental disorders. Method: All the family members of SCA were screened. and all the first and second degree relatives were mentally-examined and scale-tested. PCR-RFLP and Amp-FLP were used to examine the genes of APOE, 5-HT2A, 5-HT6 and SCA. Results: The SCA group was not the type SCAl, but a dominant hiredity one. The patients with SCA had severer mental disorders. The common symptoms were anxiety, suicide tendency and presenile dementia. There was no increases in the repeated orders of (CAG)n of SCAl,in A2/A2 of 5-HT2A and t2/t3 of APOE in the patients with SCA. Conclusion: It is common that the SCA group was accompanied by severe mental disorders, such as anxiety, suicide tendency and dementia.更多还原